Practical Recommendations For Diagnosis And Management Of Respiratory Muscle Weakness In Late-onset Pompe Disease
Title
Practical Recommendations For Diagnosis And Management Of Respiratory Muscle Weakness In Late-onset Pompe Disease
Creator
Boentert M; Prigent H; Várdi K; Jones HN; Mellies U; Simonds AK; Wenninger S; Barrot Cortés E; Confalonieri M
Identifier
DOI: 10.3390/ijms17101735
Publisher
International Journal Of Molecular Sciences
Date
2016
Subject
Adult; Glycogen Storage Disease Type Ii/diagnosis; Glycogen Storage Disease Type Ii/pathology; Glycogen Storage Disease Type Ii/therapy; Humans; Infant; Muscle Weakness/pathology; Muscle Weakness/therapy; Respiratory Function Tests; Respiratory Insufficiency/therapy; Respiratory Muscles/pathology; Surveys And Questionnaires
Pompe Disease; Cough Assistance; Mechanical Ventilation; Neuromuscular Disorders; Respiratory Muscle Weakness
Description
Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness may decline more rapidly than overall neurological disability. Sleep-disordered breathing, daytime hypercapnia, and the need for nocturnal ventilation eventually evolve in most patients. Additionally, respiratory muscle weakness leads to decreased cough and impaired airway clearance, increasing the risk of acute respiratory illness. Progressive respiratory muscle weakness is a major cause of morbidity and mortality in late-onset Pompe disease even if enzyme replacement therapy has been established. Practical knowledge of how to detect, monitor and manage respiratory muscle involvement is crucial for optimal patient care. A multidisciplinary approach combining the expertise of neurologists, pulmonologists, and intensive care specialists is needed. Based on the authors' own experience in over 200 patients, this article conveys expert recommendations for the diagnosis and management of respiratory muscle weakness and its sequelae in late-onset Pompe disease.
Rights
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Citation List Month
October 2016 List
Citation
Boentert M; Prigent H; Várdi K; Jones HN; Mellies U; Simonds AK; Wenninger S; Barrot Cortés E; Confalonieri M, “Practical Recommendations For Diagnosis And Management Of Respiratory Muscle Weakness In Late-onset Pompe Disease,” Pediatric Palliative Care Library, accessed October 11, 2024, https://pedpalascnetlibrary.omeka.net/items/show/10664.